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A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification [PDF]

open access: yesFrontiers in Genetics
Adrenoleukodystrophy is a rare neurogenetic disease, and adrenomyeloneuropathy is the most common phenotype in adults. The clinical data of a patient with adrenoleukodystrophy and spinal-peripheral neuropathy caused by a novel point mutation in exon 4 of
Xiaoxue Shi   +13 more
doaj   +2 more sources

Salmonella enteritidis acquires phage resistance through a point mutation in rfbD but loses some of its environmental adaptability [PDF]

open access: yesVeterinary Research
Phage therapy holds promise as an alternative to antibiotics for combating multidrug-resistant bacteria. However, host bacteria can quickly produce progeny that are resistant to phage infection.
Yukun Zeng   +5 more
doaj   +2 more sources

Mutation-driven parallel evolution in emergence of ACE2-utilizing sarbecoviruses

open access: yesFrontiers in Microbiology, 2023
Mutation and recombination are two major genetic mechanisms that drive the evolution of viruses. They both exert an interplay during virus evolution, in which mutations provide a first ancestral source of genetic diversity for subsequent recombination ...
Bin Gao, Shunyi Zhu
doaj   +1 more source

Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori

open access: yesGut and Liver, 2021
Background/Aims: Point mutations in the 23S ribosomal RNA gene have been associated with Helicobacter pylori clarithromycin resistance. This study aimed to detect the prevalence of these point mutations and to investigate the role of different point ...
Sang Yoon Kim   +7 more
doaj   +1 more source

Base Editing in Peanut Using CRISPR/nCas9

open access: yesFrontiers in Genome Editing, 2022
Peanut (Arachis hypogaea L.), an allotetraploid legume of the Fabaceae family, is able to thrive in tropical and subtropical regions and is considered as a promising oil seed crop worldwide.
Anjanasree K. Neelakandan   +5 more
doaj   +1 more source

Recombinant Escherichia coli BL21 with LngA Variants from ETEC E9034A Promotes Adherence to HT-29 Cells

open access: yesPathogens, 2023
The CS21 pilus produced by enterotoxigenic Escherichia coli (ETEC) is involved in adherence to HT-29 intestinal cells. The CS21 pilus assembles proteins encoded by 14 genes clustered into the lng operon. Aim. This study aimed to determine whether E. coli
Karina Espinosa-Mazariego   +9 more
doaj   +1 more source

IGLV3-21*01 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2020
Significance CLL is characterized by autonomous B cell receptor (BCR) signaling. CLL subsets are empirically defined by sequence similarities of the BCR heavy chain.
P. Maity   +38 more
semanticscholar   +1 more source

Target-Site Mutations and Glutathione S-Transferases Are Associated with Acequinocyl and Pyridaben Resistance in the Two-Spotted Spider Mite Tetranychus urticae (Acari: Tetranychidae)

open access: yesInsects, 2020
The two-spotted spider mite Tetranychus urticae is a difficult-to-control pest due to its short life cycle and rapid resistance development. In this study, we characterized field strains collected in 2001 and 2003 that were selected for acequinocyl ...
Jihye Choi   +5 more
doaj   +1 more source

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

open access: yesFrontiers in Genome Editing, 2023
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvate kinase (RPK) enzyme activity. PKD is associated with
Sara Fañanas-Baquero   +16 more
doaj   +1 more source

Elastin genetic point mutation and the risk of pelvic organ prolapse

open access: yesClinical and Experimental Obstetrics & Gynecology, 2020
Aim: A missense mutation in the elastin gene (g28197A > G) is associated with an increased risk for inguinal hernias. Due to the shared epidemiological and pathophysiological features between pelvic organ prolapse (POP) and inguinal hernias, the authors ...
N. Haya   +5 more
doaj   +1 more source

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